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■ Abbreviation / Long Form : AMME / Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis

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Abbreviation:   AMME  (>> Co-occurring Abbreviation)
Long Form:   Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis
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No. Year Title Co-occurring Abbreviation
2019 Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis. ---